ABCMdb

PMID: 26180531

Brady C, Palladino AA, Gutmark-Little I
A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels.
Int J Pediatr Endocrinol. 2015;2015(1):16. doi: 10.1186/s13633-015-0012-4. Epub 2015 Jul 15., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC8 p.Trp739Cys ABCC8 p.Arg1393Leu Mutation analysis of ABCC8 showed three variants (R1215W - paternal, pathogenic; W739C - maternal, variant of unknown significance; R1393L - maternal, variant of unknown significance). Login to comment 59 ABCC8 p.Trp739Cys ABCC8 p.Arg1393Leu The R1215W variant was found to be paternally-inherited while the W739C and R1393L variants were maternally inherited. Login to comment 62 ABCC8 p.Trp739Cys ABCC8 p.Arg1393Leu In our patient, the significance of the maternal variants was unclear as they had not been previously described in Table 1 Fasting challenge results Test name (Normal range) Laboratory result IGFBP-1 (ng/mL) (5-9 years: 15-95; no reference range for patients <5 years) 61 Insulin (<2-13 bc;IU/mL fasting) 0.2 Glucose (>70 mg/dL/3.885 mmol/L) 32/1.776 C-peptide (0.8-3.5 ng/mL) 0.5 BOHB (0-3.0 mg/dL) 4.3 (0.41 mmol/L) Free Fatty Acids (0.5-0.9 mmol/L) 0.46 Growth Hormone (>7 ng/mL) 3 Table 2 Genetic results (ABCC8 Mutation) Mutation Inheritance Interpretation c. R1215W Paternal Pathogenic c. W739C Maternal VUS c. R1393L Maternal VUS VUS variant of unknown significance CHI cases. Login to comment 114 ABCC8 p.Trp739Cys We have recently learned (from a patient at Children`s Hospital of Philadelphia) that the W739C maternal variant has been identified in a patient with diffuse disease indicating that it likely acts recessively. Login to comment 115 ABCC8 p.Arg1393Leu We suspect the R1393L variant is pathogenic and could act either recessively or dominantly. Login to comment